Outcomes of Triceps Surae Lengthening Surgery in Children With Charcot-Marie-Tooth Disease: A Multisite Investigation.

Background: Orthopaedic surgical intervention in children with Charcot-Marie-Tooth (CMT) often includes triceps surae lengthening (TSL) and foot procedures to address instability and pain due to equinus and cavovarus deformities. These surgeries may unmask underlying weakness in this progressive disease causing increased calcaneal pitch and excessive dorsiflexion in terminal stance leading to crouch. The purpose of this study was to evaluate changes in ankle function during gait following TSL surgery in children with CMT.

Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.

Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.

Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.

Response to induction chemotherapy modifies the effect of conventional prognostic factors in high-risk neuroblastoma: A report from the Children's Oncology Group.

Background: Response to induction chemotherapy has been shown to predict outcome in patients with high-risk neuroblastoma (HR-NB), with those achieving a complete response (CR) having superior outcomes.

Methods: We evaluated whether conventional prognostic factors remain prognostic in subsets of patients defined by response to induction. 1244 Patients from four COG high-risk trials were included.

Psychometrics of Wearable Devices Measuring Physical Activity in Ambulant Children With Gait Abnormalities: A Systematic Review and Meta-analysis.

Objective: To evaluate psychometrics of wearable devices measuring physical activity (PA) in ambulant children with gait abnormalities due to neuromuscular conditions.

Data Sources: We searched PubMed, Embase, PsycINFO, CINAHL, and SPORTDiscus in March 2023.

Study Selection: We included studies if (1) participants were ambulatory children (2-19y) with gait abnormalities, (2) reliability and validity were analyzed, and (3) peer-reviewed studies in the English language and full-text were available.

Effects of Webcam Access to Preterm Infants in NICUs on Parental Psychological Strain.

Aim: To investigate whether webcam access for parents of infants in neonatal intensive care units influences parental postpartum depression and stress experiences.

Methods: Parents whose infants had a birth weight below 1500 g and who were admitted to one of the four participating tertiary care hospitals were eligible to participate in the study. The study followed the structure of a multi-centre cross-over pragmatic randomised controlled trial.

Recommendations for mitochondria transfer and transplantation nomenclature and characterization.

Intercellular mitochondria transfer is an evolutionarily conserved process in which one cell delivers some of their mitochondria to another cell in the absence of cell division. This process has diverse functions depending on the cell types involved and physiological or disease context. Although mitochondria transfer was first shown to provide metabolic support to acceptor cells, recent studies have revealed diverse functions of mitochondria transfer, including, but not limited to, the maintenance of mitochondria quality of the donor cell and the regulation of tissue homeostasis and remodelling.

Trial of Labor After Cesarean Delivery in Individuals With Twin Pregnancies and Two Prior Cesarean Deliveries.

Objective: To investigate short-term maternal and neonatal outcomes in individuals with twin pregnancies and two prior cesarean deliveries who underwent trial of labor after cesarean (TOLAC).

Methods: A cross-sectional study of live-birth data was conducted between 2014 and 2021 in the United States. Individuals with more than two prior cesarean deliveries and multiple gestations higher than twins were excluded.

Mode of Delivery and Subsequent Motor Function in Children With Myelomeningocele Without In Utero Repair.

Objective: To assess the association between mode of delivery and 2-year motor function in children with prenatal diagnosis of myelomeningocele.

Methods: A multisite retrospective cohort study of children with myelomeningocele across 14 NAFTNet (North American Fetal Therapy Network) centers born between 2007 and 2020 who had a physical examination available at 2 years of life. Exclusion criteria were in utero myelomeningocele repair, postnatal myelomeningocele diagnosis, missing data on fetal presentation at delivery, and contraindications to labor.

Chartering Patient Flights for Surgery in a Road Inaccessible Nation: The Samaritan's Purse Cleft Lip Missions Model in South Sudan.

Introduction: Few patients in South Sudan have access to cleft lip repair due to limitations in health care facilities, personnel and road infrastructure. Samaritan's Purse is a non-governmental organization that provides chartered flights from road inaccessible regions to a single central hospital in this nation's capital. This study's purpose was to describe the chartered flight model for conducting nationwide cleft lip mission trips.

A novel tool for assessing pediatric emergency care in low- and middle-income countries: a pilot study.

Background: Globally, most children seek emergency care at general rather than specialized pediatric emergency departments. There remains significant variation in the provision of pediatric emergency care, particularly in resource-constrained settings. The objective of this study is to pilot a self-assessment tool to evaluate pediatric emergency care capabilities in low- and middle-income country (LMIC) hospitals on the African Continent.

Eighth Annual Society of Thoracic Surgeons Pedimacs Report.

Background: The Pediatric Interagency Registry for Mechanical Circulatory Support (Pedimacs), supported by The Society of Thoracic Surgeons, provides detailed information on pediatric patients supported with ventricular assist devices (VADs).

Methods: From September 19, 2012, to December 31, 2023, there were 1648 devices in 1349 patients (<19 years) from 39 North American Hospitals with 100 patients enrolled in 2023.

Results: Cardiomyopathy was the most common underlying etiology (59%), followed by congenital heart disease (26%) and myocarditis (8%).

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.

Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.

E-liquid flavors and nicotine concentration choices over 6 months after a smoking cessation attempt with ENDS: Secondary analyses of a randomized controlled trial.

Introduction: Many tobacco smokers try to quit with electronic nicotine delivery systems (ENDS or e-cigarettes). We aimed to describe e-liquid flavors and nicotine concentration use over 6 months in a prospective cohort of smokers willing to quit with ENDS.

Methods: We included 622 participants from the intervention group of the Efficacy, Safety and Toxicology of ENDS randomized controlled trial.

Feasibility of home-based urine collection in children under 5 years in the ORIGINS birth cohort study: mixed method protocol and sample completion results.

Background: Urine is an attractive biospecimen for nutritional status and population health surveys. It is an excellent non-invasive alternative to blood for appropriate biomarkers in young children and is suitable for home-based collection, enabling representative collections across a population. However, the bulk of literature in this population is restricted to collection in primary care settings.

Bullying in adolescents across three years in the context of the COVID-19 pandemic: a repeated cross-sectional and prospective analysis.

Background: Bullying has been identified as a risk factor for many issues among adolescents. Although it was already considered a public health issue in Brazil before the COVID-19 pandemic, little is known about how the pandemic and associated public health measures have affected bullying behavior.

Objective: To explore changes in bullying victimization and perpetration among Brazilian high school students from 2019 to 2022.

Incidence, risk factors, and outcomes of transplant-associated thrombotic microangiopathy in pediatric patients after allogeneic hematopoietic cell transplantation: a single-institution prospective study.

Transplant-associated thrombotic microangiopathy (TA-TMA) is an increasingly recognized complication in hematopoietic cell transplantation (HCT). Given the rarity of prospective pediatric studies on TA-TMA, this study aimed to evaluate the incidence, survival outcomes, and risk factors for predicting early the development of TA-TMA in a pediatric population following allogeneic HCT. We conducted a prospective analysis of 173 pediatric patients to evaluate the incidence, survival outcome, and risk factors of TA-TMA.

Effect of Characteristic Inflammatory and Structural Pelvic Magnetic Resonance Imaging Lesions on Expert Assessment of Axial Juvenile Spondyloarthritis.

Objective: To evaluate the influence of pelvic magnetic resonance imaging (MRI) findings on axial disease assessment in juvenile spondyloarthritis (JSpA).

Methods: This was a cross-sectional study of patients with JSpA with suspected axial disease. Three experts reviewed each case and rated their confidence (-3 to +3) in the presence of axial disease, first with clinical data and second with clinical and MRI data.

Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models.

Children with neurodegenerative disease often have debilitating gastrointestinal symptoms. We hypothesized that this may be due at least in part to underappreciated degeneration of neurons in the enteric nervous system (ENS), the master regulator of bowel function. To test this hypothesis, we evaluated mouse models of neuronal ceroid lipofuscinosis type 1 and 2 (CLN1 and CLN2 disease, respectively), neurodegenerative lysosomal storage disorders caused by deficiencies in palmitoyl protein thioesterase-1 and tripeptidyl peptidase-1, respectively.

Impact of Frailty on Surgical Outcomes of Patients With Cushing Disease Using the Multicenter Registry of Adenomas of the Pituitary and Related Disorders Registry.

Background And Objectives: Despite growing interest in how patient frailty affects outcomes (eg, in neuro-oncology), its role after transsphenoidal surgery for Cushing disease (CD) remains unclear. We evaluated the effect of frailty on CD outcomes using the Registry of Adenomas of the Pituitary and Related Disorders (RAPID) data set from a collaboration of US academic pituitary centers.

Methods: Data on consecutive surgically treated patients with CD (2011-2023) were compiled using the 11-factor modified frailty index.

Can ChatGPT4-vision identify radiologic progression of multiple sclerosis on brain MRI?

Background: The large language model ChatGPT can now accept image input with the GPT4-vision (GPT4V) version. We aimed to compare the performance of GPT4V to pretrained U-Net and vision transformer (ViT) models for the identification of the progression of multiple sclerosis (MS) on magnetic resonance imaging (MRI).

Methods: Paired coregistered MR images with and without progression were provided as input to ChatGPT4V in a zero-shot experiment to identify radiologic progression.

Ocrelizumab dose selection for treatment of pediatric relapsing-remitting multiple sclerosis: results of the OPERETTA I study.

Background: The presented study identified the appropriate ocrelizumab dosing regimen for patients with pediatric-onset multiple sclerosis (POMS).

Methods: Patients with POMS aged 10-17 years were enrolled into cohort 1 (body weight [BW] < 40 kg, ocrelizumab 300 mg) and cohort 2 (BW ≥ 40 kg, ocrelizumab 600 mg) during a 24-week dose-exploration period (DEP), followed by an optional ocrelizumab (given every 24 weeks) extension period.

Primary Endpoints: pharmacokinetics, pharmacodynamics (CD19 B-cell count); secondary endpoint: safety; exploratory endpoints: MRI activity, protocol-defined relapses, Expanded Disability Status Scale (EDSS) score change.

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.

Assessing Clinical Improvement of Infants Hospitalized for Respiratory Syncytial Virus-Related Critical Illness.

Background: Pediatric respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (LRTI) commonly requires hospitalization. The Clinical Progression Scale Pediatrics (CPS-Ped) measures level of respiratory support and degree of hypoxia across a range of disease severity, but it has not been applied in infants hospitalized with severe RSV-LRTI.

Methods: We analyzed data from a prospective surveillance registry of infants hospitalized for RSV-related complications across 39 U.